ATP5B

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
OMIM: 102910, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ATP5B in Mendeliome


Version 1.4230

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inherited dystonia, MONDO:0044807, ATP5B-related
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

Amber ATP5B in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.13

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inherited dystonia, MONDO:0044807, ATP5B-related
    • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

    Amber ATP5B in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inherited dystonia, MONDO:0044807, ATP5B-related